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Elenkov I J - - 2001
Clinical observations indicate that some autoimmune diseases, such as rheumatoid arthritis and multiple sclerosis, frequently remit during pregnancy but exacerbate, or have their onset, in the postpartum period. The immune basis for these phenomena is poorly understood. Recently, excessive production of IL-12 and TNF-alpha was causally linked to rheumatoid arthritis ...
Chisholm C A - - 2001
We report the occurrence of multiple acyl-CoA dehydrogenase deficiency (MADD) in two consecutive pregnancies in a young, Caucasian, non-consanguineous couple. In the first pregnancy, the maternal serum alpha-fetoprotein was elevated. A sonogram showed growth delay, cystic renal disease, and oligohydramnios; the parents decided to terminate the pregnancy. Postmortem examination confirmed ...
Shoob H D - - 2001
Research has provided evidence of the role of multivitamin supplementation in the prevention of neural tube defects (NTD). Failure of the neural tube to close is one of the most frequent and severe human developmental defects. The etiology of NTD is complex, encompassing genetic, dietary and environmental factors. The purpose ...
Nelen W L - - 2001
Mild hyperhomocysteinaemia has been identified as a risk factor for arterial disease and venous thrombosis. In 1991, elevated homocysteine concentrations were also suggested to be associated with neural tube defects (NTD). Since then this relationship has been reported frequently, as well as the relationship between NTD and the 677 C-->T ...
Lucock M - - 2001
The effect of four polymorphic genes of folate-dependent methionine biosynthesis have been investigated in mothers affected by a neural tube defect pregnancy (NTD) and matched controls. The influence of the various genotypes on total red cell 5-methyl-H(4)folate,5,10-methenyl-H(4)folate, and 5-formyl-H(4)folate is reported, as is the effect on homocysteine and radioassay folate ...
McMahon C L - - 2001
BACKGROUND: The use of valproic acid during pregnancy has been associated with adverse fetal outcomes, including major and minor congenital malformations, intrauterine growth retardation (IUGR), hyperbilirubinemia, hepatotoxicity, transient hyperglycemia, and fetal and neonatal distress. In addition, intrauterine exposure to valproic acid has been associated with an increased risk of central ...
Benn P A - - 2001
Second trimester maternal serum alpha-fetoprotein (MS-AFP), human chorionic gonadotrophin (hCG), unconjugated estiol (uE3), and inhibin-A (INH-A) levels were evaluated in pregnancies complicated by triploidy. In addition to seven new triploid pregnancies, the results for 67 published cases were reviewed. All cases appear to fall into two major groups. First, those ...
Galal A M - - 2001
Microbial transformation of the germacranolide pyrethrosin (1) using Rhizopus nigricans NRRL 1477 has resulted in the isolation of 6 alpha-acetoxy-1 beta,4 alpha-dihydroxy-5,7 alpha H,8 beta H-eudesm-11 beta,13-dihydro-8,12-olide (5), a new eudesmanolide-type metabolite, in addition to the previously reported eudesmanolides: 2, 3, 4, and 6. The structure elucidation of these metabolites ...
Callender E S - - 2001
OBJECTIVES: To determine whether women who have ha da pregnancy in which the fetus is affected by a neural tube defect (NTD) know of current folic acid recommendations; whether the recommendations are followed before or during the pregnancy associated with an NTD and subsequent pregnancies; and to insure that women ...
Huerta-Enochian G - - 2001
OBJECTIVE: Our purpose was to investigate whether adverse outcomes associated with elevated maternal serum alpha-fetoprotein levels may be prevented by intensive antenatal monitoring. STUDY DESIGN: Records of patients with elevated maternal serum alpha-fetoprotein values of > or =2.0 multiples of the median between 1995 and 1999 were reviewed. Pregnancy histories ...
Silver R K - - 2001
OBJECTIVE: To evaluate the contemporary utility of amniotic fluid alpha-fetoprotein measurement as a complementary test for fetal abnormalities at the time of invasive genetic testing. METHODS: A review of amniotic fluid alpha-fetoprotein test results was conducted to determine the frequency with which elevated alpha-fetoprotein values added independent diagnostic information and ...
Deda G - - 2001
We report a 10-year-old boy with Mobius syndrome (MS) associated with ventricular septal defect who was delivered after an unsuccessful curettage before the 10th week of gestation. Methylergobasine which is an ergot alkaloid was also applied during the curettage procedure. Despite of the curettage procedure, the pregnancy was continued and ...
Ericson A - - 2001
Folic acid is recommended to reduce the risk of neural tube defects and other congenital malformations. Data from the Swedish Medical Birth Registry were used to study frequency of twinning in women who in early pregnancy reported the use of folic acid. Women (n = 2,569) who in early pregnancy ...
van der Put N M - - 2001
Folate administration substantially reduces the risk on neural tube detects (NTD). The interest for studying a disturbed homocysteine (Hcy) metabolism in relation to NTD was raised by the observation of elevated blood Hcy levels in mothers of a NTD child. This observation resulted in the examination of enzymes involved in ...
Yamamoto R - - 2001
Our purpose was to examine the utility of analyzing alpha-fetoprotein (AFP) microheterogeneity assessed by lectin affinity in Down's syndrome (DS) screening. Maternal sera and amniotic fluids were collected from 18 women who were carrying DS fetuses and 70 unaffected pregnancies around 16 weeks of gestation. The percentages of AFP which ...
Bower C - - 2001
BACKGROUND: When evaluating preventive programs such as folate promotion and rubella vaccination, it is critically important to include terminations of pregnancy for neural tube defects and congenital rubella syndrome. Data from birth defects registries are often used for this purpose. The Western Australian Birth Defects Registry ascertains cases of birth ...
Lumley J - - 2001
Neural tube defects arise during the development of the brain and spinal cord. The objective of this review was to assess the effects of increased consumption of folate or multivitamins on the prevalence of neural tube defects periconceptionally (that is before pregnancy and in the first two months of pregnancy). ...
Bartha J L - - 2000
OBJECTIVE: To determine whether a relationship exists between alpha-fetoprotein (AFP) and hematopoietic growth factors in amniotic fluid. METHODS: Forty-one women at 15 weeks' gestation were included in the study. Gestational age was assessed by obtaining a reliable menstrual history and scanning. Amniocentesis was performed, and each woman subsequently delivered anatomically ...
van der Put N M - - 2000
Folate administration substantially reduces the risk on neural tube defects (NTD). The interest for a disturbed homocysteine (Hcy) metabolism in relation to NTD was raised by the observation of elevated blood Hcy levels in mothers of a NTD child. This observation resulted in the examination of enzymes involved in the ...
Jones B M - - 2000
In order to investigate the role of type 1 and type 2 cytokines in the remission of Graves' disease (GD) during pregnancy, spontaneous and mitogen-stimulated production of interleukin (IL)-4, IL-6, IL-10, IL-12, interferon-gamma (IFN-gamma), and tumour necrosis factor-alpha (TNF-alpha) were measured by enzyme-linked immunospot assay of peripheral blood mononuclear cells ...
Lambert-Messerlian G M - - 2000
Inhibin A is effective as a second trimester maternal serum marker for Down syndrome screening. In the present study, inhibin A levels were measured in second trimester maternal serum samples from 28 pregnancies affected with open neural tube defects; 12 associated with open spina bifida and 16 associated with anencephaly. ...
Kennedy D M - - 2000
We have evaluated three alternative models for trisomy 18 screening using the maternal serum markers alpha-fetoprotein (AFP) and intact human chorionic gonadotrophin (hCG). Using data from 46 affected pregnancies and 48 150 unaffected pregnancies, we calculated distribution parameters for AFP and hCG multiples of the median (MoMs) and the factor ...
Antony A C - - 2000
BACKGROUND: What accounts for the wide spectrum of folate-responsive dysmorphogeneses? Both embryonic and fetal cells are entirely dependent on maternal folate to support their requirement for precisely timed proliferative bursts during gestation. Folate receptors (FRs) mediate transport into cells and are central to transplacental maternal-to-fetal folate transport. FRs are also ...
Forrester M B - - 2000
OBJECTIVE: To determine the influence of various factors on the prenatal diagnosis and elective termination of neural tube defects (NTDs) in Hawaii in 1986-1997. METHODS: Data from a birth defects registry were analyzed and included 245 cases. RESULTS: 74% of the cases were prenatally diagnosed and 48% were terminated. Anencephaly ...
Benn P A - - 2000
OBJECTIVE: To determine whether a combination of elevated maternal serum alpha-fetoprotein (MSAFP) and low unconjugated estriol (E3) concentration identifies pregnancies at particularly high risk for fetal abnormality or poor outcome. METHODS: Pregnancy outcomes were reviewed for women with elevated MSAFP (> or =2.0 MoM) from our database of 50,315 women ...
Rankin J - - 2000
Using data from the Northern Congenital Abnormality Survey, we describe trends in the prevalence of neural tube defects (NTDs), maternal age-specific prevalence, outcome of pregnancy and the sensitivity of antenatal diagnosis of NTD-affected pregnancies in the Northern Region during 1984-96. This population-based sample consisted of 934 NTDs: there were 403 ...
de Jong G - - 2000
Three patients are described with defects of blastogenesis and predominantly midline defects. Two were sibs of whom the firstborn were female cephalothoracopagus-conjoined twins with multiple predominantly midline defects initially thought to be a sporadic occurrence. A subsequent brother presented with severe hydrocephalus, rhombencephalosynapsis, conotruncal defect, ambiguous genitalia, and unilateral pre-axial ...
Brownbill P - - 2000
We tested two hypotheses: 1) that fibrin-containing fibrinoid-filled denudations of the syncytiotrophoblast may provide a route for paracellular diffusion and 2) that placentas from women who had elevated maternal serum alphafetoprotein (MSAFP) in midgestation had raised permeability to AFP and greater denudation than in normal pregnancy. We measured AFP and ...
Nuttall K L - - 2000
Maternal serum alpha-fetoprotein (MS-alphaFP) testing is widely used to screen for fetal defects. MS-alphaFP concentrations are affected by a number of variables such as gestational age, maternal weight, number of fetuses, race, and insulin-dependent diabetes. Undefined geographic factors may also influence MS-alphaFP. We have examined the effect of altitude in ...
- - 2000
Neural tube defects (NTDs) are common and serious malformations that originate early in pregnancy. In the United States, approximately 4000 pregnancies each year are affected by the two most common NTDs (spina bifida and anencephaly). In 1992, the Texas Department of Health (TDH), with support from a CDC cooperative agreement, ...
Wenstrom K D - - 2000
A mutation in the gene 5,10-methylenetetrahydrofolate reductase (MTHFR), leading to altered homocysteine metabolism, has been identified in parents and fetuses with fetal neural tube defects. We sought to determine which is of greater importance in fetal neural tube defect formation: the fetal MTHFR mutation or elevated amniotic fluid homocysteine level. ...
Macdonell J E - - 2000
OBJECTIVE: To study the association between "pregnancy" prevalence (affected births and terminations) of neural tube defects in postcode districts of Glasgow and lead concentrations in domestic water. SETTING: Postcode districts of Glasgow supplied by water from the Loch Katrine reservoir. DESIGN: An ecological study. Lead concentrations from 1911 randomly selected ...
Rivas F - - 2000
The reproductive history of 100 women with at least 1 child with a neural tube defect (NTD) has been studied. The data analyzed correspond to the period previous to their first visit to a genetic counseling service. A total of 204 pregnancies resulted in 205 outcomes. Of the 100 sibships, ...
Lumley J - - 2000
Neural tube defects arise during the development of the brain and spinal cord. The objective of this review was to assess the effects of increased consumption of multivitamins or folate on the prevalence of neural tube defects before pregnancy and in the first two months of pregnancy (periconceptionally). We searched ...
van Rijn M - - 1999
OBJECTIVE: To determine whether the relationship between adverse pregnancy outcome and elevated maternal serum alpha-fetoprotein (MSAFP) and/or maternal serum hCG levels in women whose fetuses have no chromosomal abnormalities or neural tube defects is restricted to pregnancies with a priori elevated risk for pathology or also present in low-risk pregnancies. ...
Lam Y H - - 1999
The risk of having an offspring with neural tube defect is negatively correlated with early pregnancy maternal folate levels. Thalassaemia carriers often have subnormal folate levels. We postulate that their offspring may be at increased risk of having neural tube defect. We retrospectively reviewed the records of 1961 Chinese women ...
DeSesso J M - - 1999
Neural tube defects (NTDs), a set of structural abnormalities affecting the brain, spinal cord, and the skeletal and connective tissues that protect them, are common malformations among humans and laboratory animals. The embryogenesis of the neural tube is presented to convey the complexity of the phenomenon, the multiplicity of requisite ...
Shin J H - - 1999
Neural tube defects (NTD) are a group of malformations that result from the failure of the neural tube to close early in embryonic development and among the most common congenital malformations in humans. It has been reported that a substantial proportion of NTD in humans can be prevented by folic ...
Rosano A - - 1999
OBJECTIVE: To examine time trends in neural tube defects (NTD) prevalence from 1987 to 1996 in relation to the primary prevention policies for folic acid supplementation strategies in different countries. DESIGN: Retrospective time trends analysis of NTD prevalence. SETTING: 11 birth defect registries of congenital malformations participating in the International ...
Dean J C - - 1999
Around 6% of infants born to mothers taking anticonvulsants have malformations, including neural tube defects, and a further proportion show developmental delay in later childhood. Three commonly used anticonvulsants, carbamazepine, phenytoin and sodium valproate, interfere with folic acid metabolism. We investigated the common 677 C>T mutation in the methylenetetrahydrofolate reductase ...
Onda T - - 1999
Owing to differences in maternal serum alpha-fetoprotein, human chorionic gonadotrophin and oestriol levels between native Japanese and Caucasian women screened in this laboratory, a study was conducted to measure amniotic fluid alpha-fetoprotein (AFAFP) levels in native Japanese pregnancies. When the native Japanese AFAFP levels were compared with a United States ...
Lam Y H - - 1999
Data in the Caucasian population suggest that maternal serum alpha-fetoprotein (AFP) and unconjugated oestriol concentrations are reduced and human chorionic gonadotrophin (HCG) concentrations are elevated in pregnancies conceived after in-vitro fertilization (IVF), leading to a higher than expected Down's syndrome screen-positive rate. There are no previous reports on the serum ...
Bartha J L - - 1999
OBJECTIVE: To evaluate the relationship of fetal erythropoiesis to both maternal and fetal serum alpha-fetoprotein (AFP) levels. STUDY DESIGN: We evaluated the relationships between maternal serum AFP levels and fetal hemoglobin, hematocrit, red blood cell count, mean corpuscular volume, mean corpuscular hemoglobin and mean corpuscular hemoglobin concentration in 63 fetuses, ...
Patel M S - - 1999
Galactosialidosis (GS) is an autosomal recessive condition caused by combined deficiency of the lysosomal enzymes beta-galactosidase and alpha-neuraminidase. The combined deficiency has been found to result from a defect in protective protein/cathepsin A (PPCA), an intralysosomal protein which protects these enzymes from premature proteolytic processing. The most severe form of ...
De Wals P - - 1999
A retrospective study of neural tube defects (NTDs) was carried out among elective terminations of pregnancies, stillbirths and live births to women residing in two regions of Quebec, in 1992. Primary data sources included the hospital administrative data system MEDECHO, stillborn and infant death certificates, and the list of patients ...
Iqbal M M - - 1999
Folate deficiency is one of today's most common vitamin deficiencies in women. Women who consume a low level of folate during pregnancy are at risk for poor pregnancy outcomes including birth defects. Birth defects are the leading cause of fetal and infant deaths throughout the world. Neural tube defects comprise ...
Hsieh T T - - 1999
BACKGROUND: The aim of this study was to ascertain the normal range of the midtrimester maternal urine alpha-fetoprotein (AFP) concentrations in Taiwanese pregnancies. METHODS: AFP was measured in the urine samples, obtained before genetic amniocentesis, from 268 women with normal singleton pregnancies between 14 and 21 weeks of gestation. Week-specific ...
Koren G - - 1999
I have an epileptic patient who plans pregnancy. It took us years to control her seizures, and valproic acid seems to be the only way to control them. What is the risk to her fetus? Neural tube defects (NTDs) are the most common of the major anomalies associated with in ...
Vintzileos A M - - 1999
OBJECTIVE: The objectives of this study were to examine (1) the diagnostic accuracy requirements (from the cost-benefit point of view) of targeted ultrasonography versus genetic amniocentesis for prenatal detection of spina bifida in women with an elevated level of maternal serum alpha-fetoprotein, (2) the ultrasonographic accuracy of previously published studies ...
Feldman B - - 1999
OBJECTIVES: Maternal nutritional deficiency is an important predisposing factor to congenital neural tube defects (NTDs). It was hypothesized that obese women may have an increased risk for NTDs. The aim of the present study was to address this question in a large cohort. METHODS: A total of 72,915 consecutive cases ...
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